Linked Data
ClinVar Variation Id:
851023
ClinVar RCV Id:
RCV001055321
dbSNP Id:
rs754477196
ExAC:
11:119149210 T / G
gnomAD v2:
11-119149210-T-G
gnomAD v3:
11-119278500-T-G
gnomAD v4:
11-119278500-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278500T>G , CM000673.2:g.119278500T>G | GRCh38 |
| NC_000011.9:g.119149210T>G , CM000673.1:g.119149210T>G | GRCh37 |
| NC_000011.8:g.118654420T>G | NCBI36 |
| NG_016808.1:g.77221T>G , LRG_608:g.77221T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*680-10T>G | ENSP00000515005.1:n.*680-10T>G | |
| ENST00000264033.6:c.1228-10T>G MANE Select | ENSP00000264033.3:n.1228-10T>G | |
| ENST00000637974.1:c.1222-10T>G | ENSP00000490763.1:n.1222-10T>G | |
| ENST00000264033.5:c.1228-10T>G | ENSP00000264033.3:n.1228-10T>G | |
| ENST00000634586.1:c.1228-10T>G | ENSP00000489218.1:n.1228-10T>G | |
| ENST00000634840.1:c.1228-10T>G | ENSP00000489324.1:n.1228-10T>G | |
| NM_005188.3:c.1228-10T>G , LRG_608t1:c.1228-10T>G | NP_005179.2:n.1228-10T>G | |
| XM_011543057.1:c.1228-10T>G | XP_011541359.1:n.1228-10T>G | |
| NM_005188.4:c.1228-10T>G MANE Select | NP_005179.2:n.1228-10T>G |